CCDC136
Code: ccdc136
Description
CCDC136 (Coiled-Coil Domain Containing 136) is a gene that encodes a protein involved in cellular processes such as cell cycle regulation, DNA repair, and transcription. Mutations in this gene have been associated with a range of developmental disorders and diseases.
Associated Diseases
Mutations in CCDC136 have been linked to the following conditions:
- Joubert Syndrome: A genetic disorder characterized by neurological impairments, including intellectual disability, impaired balance, and abnormal eye movements.
- Orofacial Clefting: A birth defect involving a split in the upper lip or palate.
- Microcephaly: A condition where the head is abnormally small due to underdeveloped brain growth.
- Haploinsufficiency Disorders: Conditions caused by the loss of one copy of a gene, including CCDC136.
Did you Know ?
Approximately 1 in 100,000 individuals have a mutation in the CCDC136 gene.
